Holger Prokisch

66PUBLICATIONS
462CO-AUTHORS
NanomanufacturingCell and nuclear divisionNeurology and neuromuscular diseasesInfant and child healthMolecular evolution
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Publications (66)

|Sep 08, 2026
Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

|Aug 25, 2026
Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant.

|Aug 14, 2026
Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

|Jun 16, 2026
Genetic screening of children for familial hypercholesterolaemia: the VRONI study.

|Apr 25, 2026
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease.

|Jan 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock

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Frequent Collaborators

6 joint publications

Julien Gagneur

6 joint publications

Michael Zech

5 joint publications

Matias Wagner

5 joint publications

Vicente A Yépez